Incidental Mutation 'IGL02658:Ppp1r15a'
ID302422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r15a
Ensembl Gene ENSMUSG00000040435
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 15A
SynonymsMyd116, Gadd34
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #IGL02658
Quality Score
Status
Chromosome7
Chromosomal Location45522916-45526268 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45524667 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 239 (Y239C)
Ref Sequence ENSEMBL: ENSMUSP00000128497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024233] [ENSMUST00000042105] [ENSMUST00000051810] [ENSMUST00000085331] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000107762] [ENSMUST00000167273] [ENSMUST00000210813] [ENSMUST00000210868] [ENSMUST00000211212] [ENSMUST00000211227]
Predicted Effect probably benign
Transcript: ENSMUST00000024233
SMART Domains Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
low complexity region 67 77 N/A INTRINSIC
low complexity region 212 220 N/A INTRINSIC
Pfam:Tub 315 556 1.1e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042105
AA Change: Y239C

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435
AA Change: Y239C

DomainStartEndE-ValueType
low complexity region 149 160 N/A INTRINSIC
low complexity region 225 234 N/A INTRINSIC
internal_repeat_1 245 333 1.03e-15 PROSPERO
low complexity region 334 351 N/A INTRINSIC
internal_repeat_1 357 447 1.03e-15 PROSPERO
low complexity region 448 459 N/A INTRINSIC
low complexity region 520 530 N/A INTRINSIC
Pfam:PP1c_bdg 536 612 8.2e-15 PFAM
low complexity region 636 652 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051810
SMART Domains Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428

DomainStartEndE-ValueType
low complexity region 8 27 N/A INTRINSIC
PH 55 155 8.18e-19 SMART
low complexity region 162 190 N/A INTRINSIC
low complexity region 228 260 N/A INTRINSIC
low complexity region 292 303 N/A INTRINSIC
low complexity region 321 334 N/A INTRINSIC
coiled coil region 376 419 N/A INTRINSIC
low complexity region 519 535 N/A INTRINSIC
low complexity region 608 628 N/A INTRINSIC
low complexity region 649 659 N/A INTRINSIC
low complexity region 706 719 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085331
SMART Domains Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
low complexity region 88 96 N/A INTRINSIC
Pfam:Tub 191 432 6.2e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107758
SMART Domains Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
low complexity region 100 108 N/A INTRINSIC
Pfam:Tub 203 451 4.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107759
SMART Domains Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
low complexity region 100 108 N/A INTRINSIC
Pfam:Tub 203 444 3.4e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107762
SMART Domains Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
Pfam:Tub_N 39 295 8.8e-36 PFAM
Pfam:Tub 315 556 1.3e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167273
AA Change: Y239C

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435
AA Change: Y239C

DomainStartEndE-ValueType
low complexity region 149 160 N/A INTRINSIC
low complexity region 225 234 N/A INTRINSIC
internal_repeat_1 245 333 1.03e-15 PROSPERO
low complexity region 334 351 N/A INTRINSIC
internal_repeat_1 357 447 1.03e-15 PROSPERO
low complexity region 448 459 N/A INTRINSIC
low complexity region 520 530 N/A INTRINSIC
Pfam:PP1c_bdg 531 612 1.1e-20 PFAM
low complexity region 636 652 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210813
Predicted Effect probably benign
Transcript: ENSMUST00000210868
Predicted Effect probably benign
Transcript: ENSMUST00000211212
Predicted Effect probably benign
Transcript: ENSMUST00000211227
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice show abnormal cellular responses to either ER- or oxidative- stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,952,560 Y946F probably benign Het
Abcb4 T G 5: 8,934,240 W657G probably benign Het
Adcy1 T C 11: 7,138,279 probably benign Het
Arap3 A G 18: 37,990,994 V351A probably benign Het
Bpifb9b A C 2: 154,311,281 Y89S probably benign Het
Carns1 C T 19: 4,173,084 C47Y probably benign Het
Chd5 C T 4: 152,360,593 H344Y probably damaging Het
Ctnna2 T C 6: 76,980,824 T481A probably benign Het
Cyth1 T A 11: 118,182,246 D264V probably damaging Het
Dph1 C A 11: 75,180,635 L311F probably benign Het
Eif3l A G 15: 79,076,942 D65G probably damaging Het
Gtf2a1l T A 17: 88,668,718 F3Y probably benign Het
Hcn4 A T 9: 58,859,465 T770S unknown Het
Hydin A T 8: 110,413,276 I726F possibly damaging Het
Klf2 A G 8: 72,319,096 I7V probably benign Het
Ltn1 A T 16: 87,415,774 L633H probably damaging Het
Ncoa3 A G 2: 166,051,393 D206G probably benign Het
Nlrp4a T G 7: 26,449,713 D248E probably benign Het
Nyap1 A G 5: 137,735,484 I429T probably damaging Het
Olfr1370 G A 13: 21,072,812 T163I probably damaging Het
Olfr285 A G 15: 98,313,356 S65P probably damaging Het
Olfr338 T A 2: 36,377,060 C95S probably damaging Het
Olfr578 A G 7: 102,984,330 M278T probably benign Het
Olfr720 T A 14: 14,175,732 M117L possibly damaging Het
Pcf11 T C 7: 92,647,046 E1322G probably damaging Het
Plcxd2 A T 16: 45,972,326 F217I probably benign Het
Plxna4 A T 6: 32,185,411 I1389N probably damaging Het
Psma6 A G 12: 55,412,211 E126G probably benign Het
R3hcc1l T A 19: 42,562,702 V46E probably damaging Het
Rap1gds1 G T 3: 138,957,479 H320N probably damaging Het
Sdhaf3 A G 6: 7,038,992 M105V probably damaging Het
Slc22a26 T A 19: 7,788,248 N345I probably benign Het
Sncaip T C 18: 52,894,955 I412T possibly damaging Het
Sorcs1 A T 19: 50,190,092 I864N probably damaging Het
Spag5 C T 11: 78,321,331 Q1062* probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Szrd1 A G 4: 141,139,746 probably benign Het
Tns2 C A 15: 102,107,796 probably benign Het
Trcg1 C A 9: 57,242,228 S361* probably null Het
Tshz3 T C 7: 36,769,158 F191L probably damaging Het
Ttc39a T C 4: 109,422,893 V124A probably damaging Het
Ttf1 T C 2: 29,074,011 I633T probably damaging Het
Zfp691 A G 4: 119,170,507 F176S probably damaging Het
Other mutations in Ppp1r15a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Ppp1r15a APN 7 45524379 unclassified probably benign
IGL02410:Ppp1r15a APN 7 45524055 missense probably damaging 1.00
IGL03156:Ppp1r15a APN 7 45525171 missense possibly damaging 0.82
R0179:Ppp1r15a UTSW 7 45525000 missense probably damaging 0.98
R0350:Ppp1r15a UTSW 7 45523018 missense probably damaging 0.99
R1220:Ppp1r15a UTSW 7 45523869 missense probably damaging 1.00
R4296:Ppp1r15a UTSW 7 45523749 nonsense probably null
R4436:Ppp1r15a UTSW 7 45524779 missense probably damaging 1.00
R4854:Ppp1r15a UTSW 7 45525373 missense probably benign 0.01
R5822:Ppp1r15a UTSW 7 45523303 missense probably damaging 1.00
R6216:Ppp1r15a UTSW 7 45524022 missense probably damaging 1.00
R6574:Ppp1r15a UTSW 7 45524109 missense probably benign 0.01
Posted On2015-04-16